المؤلفون: Biswas, P., Villanueva, A.L., Soto-Hermida, A., Duncan, J.L., Matsui, H., Borooah, S., Kumarov, B., Richard, G., Khan, S.Y., Branham, K., Huang, B., Suk, J., Bakall, B., Goldberg, J.L., Gabriel, L., Khan, N.W., Raghavendra, P.B., Zhao, J., Devalaraja, S., Huynh, A., Alapati, A., Zawaydeh, Q., Weleber, R.G., Heckenlively, J.R., Hejtmancik, J.F., Riazuddin, S., Sieving, P.A., Riazuddin, S.A., Frazer, K.A., Ayyagari, R.

المساهمون: Ophthalmology, Phoenix Children’s Hospital, University of Arizona

المصدر: PLoS Genetics

العلاقة: Biswas, P., Villanueva, A. L., Soto-Hermida, A., Duncan, J. L., Matsui, H., Borooah, S., Kumarov, B., Richard, G., Khan, S. Y., Branham, K., Huang, B., Suk, J., Bakall, B., Goldberg, J. L., Gabriel, L., Khan, N. W., Raghavendra, P. B., Zhao, J., Devalaraja, S., … Ayyagari, R. (2021). Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genetics.; http://hdl.handle.net/10150/662427Test; PLoS Genetics

الإتاحة: https://doi.org/10.1371/journal.pgen.1009848Test
http://hdl.handle.net/10150/662427Test

المؤلفون: Hufnagel, R.B., Liang, W., Duncan, J.L., Brewer, C.C., Audo, I., Ayala, A.R., Branham, K., Cheetham, J.K., Daiger, S.P., Durham, T.A., Guan, B., Heon, E, Hoyng, C.B., Iannaccone, A., Kay, C.N., Michaelides, M., Pennesi, M.E., Singh, M.S., Ullah, E.

المصدر: Human Mutation, 43, 613-624
Hum Mutat
Human Mutation, 43, 5, pp. 613-624

مصطلحات موضوعية: Extracellular Matrix Proteins, genetic structures, Mutation, otorhinolaryngologic diseases, Genetics, Humans, Usher Syndromes, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], eye diseases, Genetic Association Studies, Retinitis Pigmentosa, Article, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab2d5085df6f702fc4cc80dd1feddf5fTest
https://doi.org/10.1002/humu.24365Test

المؤلفون: McCarthy S., Das S., Kretzschmar W., Delaneau O., Wood A. R., Teumer A., Kang H. M., Fuchsberger C., Danecek P., Sharp K., Luo Y., Sidore C., Kwong A., Timpson N., Koskinen S., Vrieze S., Scott L. J., Zhang H., Mahajan A., Veldink J., Peters U., Pato C., Van Duijn C. M., Gillies C. E., Gandin I., Mezzavilla M., Gilly A., Cocca M., Traglia M., Angius A., Barrett J. C., Boomsma D., Branham K., Breen G., Brummett C. M., Busonero F., Campbell H., Chan A., Chen S., Chew E., Collins F. S., Corbin L. J., Smith G. D., Dedoussis G., Dorr M., Farmaki A. -E., Ferrucci L., Forer L., Fraser R. M., Gabriel S., Levy S., Groop L., Harrison T., Hattersley A., Holmen O. L., Hveem K., Kretzler M., Lee J. C., McGue M., Meitinger T., Melzer D., Min J. L., Mohlke K. L., Vincent J. B., Nauck M., Nickerson D., Palotie A., Pato M., Pirastu N., McInnis M., Richards J. B., Sala C., Salomaa V., Schlessinger D., Schoenherr S., Slagboom P. E., Small K., Spector T., Stambolian D., Tuke M., Tuomilehto J., Van Den Berg L. H., Van Rheenen W., Volker U., Wijmenga C., Toniolo D., Zeggini E., Gasparini P., Sampson M. G., Wilson J. F., Frayling T., De Bakker P. I. W., Swertz M. A., McCarroll S., Kooperberg C., Dekker A., Altshuler D., Willer C., Iacono W., Ripatti S., Soranzo N., Walter K., Swaroop A., Cucca F., Anderson C. A., Myers R. M., Boehnke M., McCarthy M. I., Durbin R., Abecasis G., Marchini J.

المساهمون: Mccarthy, S., Das, S., Kretzschmar, W., Delaneau, O., Wood, A. R., Teumer, A., Kang, H. M., Fuchsberger, C., Danecek, P., Sharp, K., Luo, Y., Sidore, C., Kwong, A., Timpson, N., Koskinen, S., Vrieze, S., Scott, L. J., Zhang, Han, Mahajan, A., Veldink, J., Peters, U., Pato, C., Van Duijn, C. M., Gillies, C. E., Gandin, I., Mezzavilla, M., Gilly, A., Cocca, M., Traglia, M., Angius, A., Barrett, J. C., Boomsma, D., Branham, K., Breen, G., Brummett, C. M., Busonero, F., Campbell, H., Chan, A., Chen, S., Chew, E., Collins, F. S., Corbin, L. J., Smith, G. D., Dedoussis, G., Dorr, M., Farmaki, A. -E., Ferrucci, L., Forer, L., Fraser, R. M., Gabriel, S., Levy, S., Groop, L., Harrison, T., Hattersley, A., Holmen, O. L., Hveem, K., Kretzler, M., Lee, J. C., Mcgue, M., Meitinger, T., Melzer, D., Min, J. L., Mohlke, K. L., Vincent, J. B., Nauck, M., Nickerson, D., Palotie, A., Pato, M., Pirastu, N., Mcinnis, M., Richards, J. B., Sala, C., Salomaa, V., Schlessinger, D., Schoenherr, S., Slagboom, P. E., Small, K., Spector, T., Stambolian, D., Tuke, M., Tuomilehto, J., Van Den Berg, L. H., Van Rheenen, W., Volker, U., Wijmenga, C., Toniolo, D., Zeggini, E., Gasparini, P., Sampson, M. G., Wilson, J. F., Frayling, T., De Bakker, P. I. W., Swertz, M. A., Mccarroll, S., Kooperberg, C., Dekker, A., Altshuler, D., Willer, C., Iacono, W., Ripatti, S.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000384391600025; volume:48; issue:10; firstpage:1279; lastpage:1283; numberofpages:5; journal:NATURE GENETICS; http://hdl.handle.net/11577/3455506Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84983479616

الإتاحة: https://doi.org/10.1038/ng.3643Test
http://hdl.handle.net/11577/3455506Test

المؤلفون: McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, AR, Teumer, A, Kang, HM, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidorel, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, LJ, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, CM, Gillies, CE, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, JC, Boomsma, D, Branham, K, Breen, G, Brummett, CM, Busonero, F, Campbell, H, Chan, A, Che, S, Chew, E, Collins, FS, Corbin, LJ, Smith, GD, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Fraser, RM, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, OL, Hveem, K, Kretzler, M, Lee, JC, McGue, M, Meitinger, T, Melzer, D, Min, JL, Mohlke, KL, Vincent, JB, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, McInnis, M, Richards, JB, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, PE, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, van den Berg, LH, Van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, MG, Wilson, JF, Frayling, T, de Bakker, PIW, Swertz, MA, McCarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C, Iacono, W, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, CA, Myers, RM, Boehnke, M, McCarthy, MI, Durbin, R, Abecasis, G, Marchini, J

المصدر: Nature Genetics , 48 (10) pp. 1279-1283. (2016)

مصطلحات موضوعية: Genome-wide association studies, Population genetics

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10064548/1/emss-71361.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10064548Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10064548/1/emss-71361.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10064548Test/

المؤلفون: Ratnapriya, R., Acar, I.E., Geerlings, M.J., Branham, K., Kwong, A., Saksens, N.T.M., Pauper, M., Corominas, J., Kwicklis, M., Zipprer, D., Starostik, M.R., Othman, M., Yashar, B., Abecasis, G.R., Chew, E.Y., Ferrington, D.A., Hoyng, C.B., Swaroop, A., Hollander, A.I. den

المصدر: Human Molecular Genetics, 29, 12, pp. 2022-2034

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/225445/225445.pdfTest; https://hdl.handle.net/2066/225445Test

الإتاحة: https://doi.org/10.1093/hmg/ddaa057Test
https://hdl.handle.net/2066/225445Test
https://repository.ubn.ru.nl//bitstream/handle/2066/225445/225445.pdfTest

المؤلفون: Weisschuh, N. Sturm, M. Baumann, B. Audo, I. Ayuso, C. Bocquet, B. Branham, K. Brooks, B.P. Catalá-Mora, J. Giorda, R. Heckenlively, J.R. Hufnagel, R.B. Jacobson, S.G. Kellner, U. Kitsiou-Tzeli, S. Matet, A. Martorell Sampol, L. Meunier, I. Rudolph, G. Sharon, D. Stingl, K. Streubel, B. Varsányi, B. Wissinger, B. Kohl, S.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::cf93c3c81da36e0ee4a4d8e10aaaabb5Test
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3077677Test

المؤلفون: Wu, D M, Khanna, H, Atmaca-Sonmez, P, Sieving, P A, Branham, K, Othman, M, Swaroop, A, Daiger, S P, Heckenlively, J R

المصدر: Eye ; volume 24, issue 5, page 764-774 ; ISSN 0950-222X 1476-5454

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1038/eye.2009.270Test
http://www.nature.com/articles/eye2009270.pdfTest
http://www.nature.com/articles/eye2009270Test

المؤلفون: Swaroop, A., Branham, K. E., Chen, W., Abecasis, G.

المصدر: Human Molecular Genetics ; volume 16, issue R2, page R174-R182 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddm212Test
http://academic.oup.com/hmg/article-pdf/16/R2/R174/6954613/ddm212.pdfTest

المؤلفون: Thompson D. A., Ali R. R., Banin E., Branham K. E., Flannery J. G., Gamm D. M., Hauswirth W. W., Heckenlively J. R., Iannaccone A., Thiran Jayasundera K., Khan N. W., Molday R. S., Pennesi M. E., Reh T. A., Weleber R. G., Zacks D. N, Auricchio A.

المساهمون: Thompson, D. A., Ali, R. R., Banin, E., Branham, K. E., Flannery, J. G., Gamm, D. M., Hauswirth, W. W., Heckenlively, J. R., Iannaccone, A., Thiran Jayasundera, K., Khan, N. W., Molday, R. S., Pennesi, M. E., Reh, T. A., Weleber, R. G., Zacks, D. N., Auricchio, A.

مصطلحات موضوعية: Cell therapy, Disease phenotype, Gene therapy, Outcome Measure, Retinal dystrophy, Congresses as Topic, Human, Retinal Degeneration, Disease Management, Practice Guidelines as Topic

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000352137300028; volume:56; issue:2; firstpage:918; lastpage:931; numberofpages:14; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11588/795215Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922552776; http://www.iovs.org/content/56/2/918.full.pdfTest

الإتاحة: https://doi.org/10.1167/iovs.14-16049Test
http://hdl.handle.net/11588/795215Test
http://www.iovs.org/content/56/2/918.full.pdfTest

المؤلفون: Ratnapriya, R., Zhan, X., Fariss, R. N., Branham, K. E., Zipprer, D., Chakarova, C. F., Sergeev, Y. V., Campos, M. M., Othman, M., Friedman, J. S., Maminishkis, A., Waseem, N. H., Brooks, M., Rajasimha, H. K., Edwards, A. O., Lotery, A., Klein, B. E., Truitt, B. J., Li, B., Schaumberg, D. A., Morgan, D. J., Morrison, M. A., Souied, E., Tsironi, E. E., Grassmann, F., Fishman, G. A., Silvestri, G., Scholl, H. P. N., Kim, I. K., Ramke, J., Tuo, J., Merriam, J. E., Merriam, J. C., Park, K. H., Olson, L. M., Farrer, L. A., Johnson, M. P., Peachey, N. S., Lathrop, M., Baron, R. V., Igo, R. P., Klein, R., Hagstrom, S. A., Kamatani, Y., Martin, T. M., Jiang, Y., Conley, Y., Sahel, J. A., Zack, D. J., Chan, C. C., Pericak-Vance, M. A., Jacobson, S. G., Gorin, M. B., Klein, M. L., Allikmets, R., Iyengar, S. K., Weber, B. H., Haines, J. L., Léveillard, T., Deangelis, M. M., Stambolian, D., Weeks, D. E., Bhattacharya, S. E., Chew, E. Y., Heckenlively, J. R., Abecasis, G. R., Swaroop, A.

المصدر: http://www.scopus.com/inward/record.url?eid=2-s2.0-84911391197&partnerID=40&md5=bff6d761c7df0727830d4d91ec1ac76aTest.

مصطلحات موضوعية: elastin, fibrillin 2, actin binding protein, fibrillin, age related macular degeneration, aged, aging, animal tissue, Article, autosomal dominant inheritance, Bruch membrane, clinical article, controlled study, exome, extracellular matrix, gene, gene expression, gene sequence, genetic variability, genotype, human, human tissue, macular degeneration, male, molecular model, nonhuman, nucleotide sequence, pedigree, phenotype, protein expression

العلاقة: 9646906; http://hdl.handle.net/11615/32604Test

الإتاحة: https://doi.org/10.1093/hmg/ddu276Test
http://hdl.handle.net/11615/32604Test